|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
3
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
4
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
8
|
(HPO:0001820)
|
Leukonychia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
10
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0100760)
|
Clubbing of toes |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0001806)
|
Onycholysis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
14
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
17
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
18
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
19
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
20
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
22
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
24
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
25
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
26
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
27
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
28
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
|
29
|
(HPO:0002221)
|
Absent axillary hair |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
31
|
(HPO:0002555)
|
Absent pubic hair |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
33
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
34
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
35
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
36
|
(OMIM)
|
Thick, dyskeratotic palms |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Clubbed digits |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Thick, dyskeratotic soles |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Normal sweating capacity |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
41
|
(OMIM)
|
Onychodystrophy, severe |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Thick, discolored nails |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Fine, brittle, slow-growing hair |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Total alopecia (females) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Focal alopecia to complete baldness (males) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Reduced tensile strength of hair |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Disorganized structure of hair |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Decreased cysteine and disulfide bonds in hair |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
50
|
(HPO:0010720)
|
Abnormal hair pattern |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
51
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
52
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
53
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
54
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
55
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|